(Q32140002)

English

congenital myasthenic syndrome 5

human disease

EAD
congenital myasthenic syndrome Engel type
Engel congenital myasthenic syndrome
end plate acetylcholinesterase deficiency
CMS Ic
CMS5
congenital myasthenic syndrome type Ic
Synaptic congenital myasthenic syndromes

In more languages

Statements

0 references

class of disease

0 references

congenital myasthenic syndrome

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

autosomal recessive disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000206561/Orphanet_98915

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C129304

0 references

http://purl.obolibrary.org/obo/DOID_0110667

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110667

2 references

Disease Ontology

7 October 2020

Disease Ontology ID

Identifiers.org

https://registry.identifiers.org/registry/doid

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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